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Case 44 - Oculopharyngeal Muscular Dystrophy (OPMD)

from Myopathies

Published online by Cambridge University Press:  29 November 2024

Jessica E. Hoogendijk
Affiliation:
University Medical Center Utrecht
Marianne de Visser
Affiliation:
Amsterdam University Medical Center
Pieter A. van Doorn
Affiliation:
Erasmus MC, University Medical Center, Rotterdam
Erik H. Niks
Affiliation:
Leiden University Medical Center
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Summary

A 68-year-old woman was referred because of slowly progressive difficulty climbing stairs. Four years earlier, she had had ptosis surgery of both eyes. Her mother had been diagnosed with progressive external ophthalmoplegia at the age of 69 years. She denied having swallowing difficulties, but her daughter stressed that eating biscuits took her much longer than others.

Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
, pp. 196 - 197
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

Argov, Z, de Visser, M. Dysphagia in adult myopathies. Neuromuscul Disord 2021;31(1):520. doi: 10.1016/j.nmd.2020.11.001. Epub 2020 Nov 13. PMID: 33334661.CrossRefGoogle ScholarPubMed
Brisson, JD, Gagnon, C, Brais, B, Côté, I, Mathieu, J. A study of impairments in oculopharyngeal muscular dystrophy. Muscle Nerve 2020;62(2):201207. doi: 10.1002/mus.26888. Epub 2020 May 22. PMID: 32270505.CrossRefGoogle ScholarPubMed
Eura, N, Noguchi, S, Ogasawara, M, et al.; OPDM/OPMD Image Study Group. Characteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy. J Neurol 2023 Dec;270(12):59885998. doi: 10.1007/s00415-023-11906-9. Epub 2023. PMID: 37634163.CrossRefGoogle Scholar
Kim, HJ, Mohassel, P, Donkervoort, S, et al. Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy. Nat Commun 2022;13(1):2306. doi: 10.1038/s41467-022-30015-1. PMID: 35484142; PMCID: PMC9050844.CrossRefGoogle ScholarPubMed
Richard, P, Trollet, C, Stojkovic, T, et al.; Neurologists of French Neuromuscular Reference Centers CORNEMUS and FILNEMUS. Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy.Neurology 2017;88(4):359365. doi: 10.1212/WNL.0000000000003554. Epub 2016 Dec 23. PMID: 28011929; PMCID: PMC5272966.CrossRefGoogle ScholarPubMed
Trollet, C, Boulinguiez, A, Roth, F, et al. Oculopharyngeal muscular dystrophy. 2001 Mar 8 [updated 2020 Oct 22]. In Adam, MP, Mirzaa, GM, Pagon, RA, et al., editors. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993–2023. PMID: 20301305.Google Scholar

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